0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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43PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLEDNA Repair
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
site of double-strand breakDNA damage responsechromatinnucleoplasmAtelis syndrome 1Abnormality of the skeletal systemanaphylaxisvascular disease
AI summary not yet available. Showing NCBI Gene summary.
SMC5/6 complex localization factor 2
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Atelis syndrome 1Open Targets
Abnormality of the skeletal systemOpen Targets
vascular diseaseOpen Targets
genetic disorderOpen Targets
developmental disorder of mental healthOpen Targets
esophageal squamous cell carcinomaOpen Targets
diffuse large B-cell lymphomaOpen Targets
Sleep DisorderOpen Targets
morbid obesityOpen Targets
deficiency anemiaOpen Targets
diabetes mellitusOpen Targets
infectious diseaseOpen Targets
atrial fibrillationOpen Targets
NM_018121.4(SLF2):c.1966_1969dup (p.Thr657fs)Likely pathogenic
Atelis syndrome 1
★☆☆☆2025→ Residue 657
NM_018121.4(SLF2):c.1006dup (p.Arg336fs)Pathogenic
Atelis syndrome 1
☆☆☆☆2023→ Residue 336
NM_018121.4(SLF2):c.2582A>T (p.Asn861Ile)Pathogenic
Atelis syndrome 1
☆☆☆☆2023→ Residue 861
NM_018121.4(SLF2):c.2719dup (p.Ser907fs)Pathogenic
Atelis syndrome 1
☆☆☆☆2023→ Residue 907
NM_018121.4(SLF2):c.2347_2348del (p.Asp783fs)Pathogenic
Atelis syndrome 1
☆☆☆☆2023→ Residue 783
NM_018121.4(SLF2):c.568C>T (p.Arg190Ter)Pathogenic
Atelis syndrome 1
☆☆☆☆2023→ Residue 190